Revio to power research in male infertility and rare disease at Münster University Hospital

PacBio, a leading developer of high-quality, highly accurate sequencing solutions, has announced a collaboration with the University Hospital of Münster to use long-read whole genome sequencing to significantly advance male infertility and rare disease research. By deploying PacBio’s Revio HiFi sequencing system, researchers at Münster will obtain highly accurate genomic data essential for addressing complex genetic issues associated with male infertility, including the Y chromosome.

The announcement follows the opening of the University’s Center of Medical Genetics, which will foster Münster’s role in various fields of genetics, including familial breast and ovarian cancer and reproductive genetics. Münster’s Medical Center is the first in Germany to use long-read whole genome sequencing in a translational research and diagnostic setting and owns the first Revio funded by the German healthcare system. The data generated by the Revio will contribute to Germany’s GenomeDE Modellvorhaben project to integrate genomic medicine into standard patient care. The results of this study will also extend beyond Germany, supporting research at the International Male Infertility Genomics Consortium, which has connections with eight other countries.

“The Revio system will be pivotal in furthering the University of Münster as a leader in medical genetics. Its ability to navigate complex genetic landscapes, particularly in studying the Y chromosome’s role in male infertility, will provide critical insights that were previously unattainable,” said Professor Tüttelmann, Director of The Center of Medical Genetics, University of Münster. “The male Y chromosome has until recently been a mystery due to its repetitive regions and challenging structural variants. The exceptional accuracy and depth of Revio will allow us to begin unravelling the causes of male infertility. Such insight is invaluable for aging European populations, where fewer children are being born, and more pressure is being put on health systems.”

The University of Münster will use the Revio to achieve its goal of whole genome sequencing 500 patients with male infertility over the next year. Professor Tüttelmann will also oversee the trio sequencing of rare disease families, where both parents and the affected child are sequenced on the Revio to determine whether the disease is carried on the maternal or paternal haplotype. Münster Clinic’s research findings will contribute to Germany’s GenomeDE project, which seeks to advance research into the genetic underpinnings of rare diseases, including developmental delay and cancer.

“Our HiFi technology will unlock deeper genomics insights for Professor Tüttelmann’s research into male infertility, and we look forward to seeing how the data will advance this understudied area. Supporting Münster’s new Center of Medical Genetics is an important step in PacBio’s continued growth in Europe, and we’re pleased to support the university in achieving its vision of becoming experts in familial cancer and rare disease,” said Neil Ward, General Manager and Vice President EMEA, PacBio. “These are fields of growing importance for German and European healthcare systems, and Münster’s research holds great promise for providing answers for patients internationally. Playing a critical role in such influential projects is key to achieving PacBio’s mission to enable the promise of genomics to better human health.”

Want the latest science news straight to your inbox? Become a SelectScience member for free today>>